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Laboratory:

Clinical Biochemistry (BIOCHEMICAL GENETICS)

Test Name:

LYSOSOMAL ACID LIPASE - (B)

Test Code: MIS8

Clinical Information:

Alternate Names: Cholesterol Ester Storage Disease, Wolman Disease, CESD, LALD

Description: LALD is expressed phenotypically as infantile-onset Wolman disease or later-onset cholesterol ester storage disease.

Whole blood samples collected on blood spot filter paper cards are an acceptable alternative.

Collection Devices:

Preferred Device:	1 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	1 - Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dikinson & Company Catalogue #: 367871

Specimen Required:

Whole Blood: 2.0 mL

Pediatric Whole Blood: 0.5 mL

Referral:

Whole blood sample is referred to Mayo Medical Laboratories. Samples are stable at 7 days refrigerated (preferred) or at ambient temperature.

Requisition:

Reference Values:

≥ 21.0 nmol/h/mL

Values < 1.5 nmol/h/mL are consistent with lysosomal acid lipase deficiency, Wolman disease, or cholesteryl ester storage disease.

Availability:

Within 2 Weeks

Testing is performed at Mayo Medical Laboratories.